My Son Joe

My story

About

I have written what happened to me & my little boy when he was diagnosed with ALD. It was the worst 8 months of my life but I wanted to share my experience's with everybody. The doctors told me he would have had it since he was two & he had the worst form of ALD. They also said they have learnt from Joe to help in their battle against this disease.

My Son Joe

Our Journey with ALD (Adrenoleukodystrophy)

Please find the story below that I have written about what happened to me and my son Joe and his diagnosis of the disease ALD (Adrenoleukodystrophy). It was the worst 8 months of my life but I wanted to share my experience's with everybody.....

We aslo have another website dedicated to Joe's family, please click the icon below to access this.

To read about Joe's family journey with this disease please click the icon below for their stories

My Story

I have written what happened to me & my little boy when he was diagnosed with ALD. It was the worst 8 months of my life but I wanted to share my experience's with everybody. The doctors told me he would have had it since he was two & he had the worst form of ALD. They also said they have learnt from Joe to help in their battle against this disease.

Sept 2002

This is my wonderful son Joe, a happy & bubbly boy who was loved by everyone who met him. It was just me and him

It had always been just me and him since he was a baby, he wasn’t just my son he was my best friend who always made me smile even when things got bad. Our Journey with A L D Started in September 2002, he was 5 years old. He was having his bath after school and I was sat talking to him while he was playing with his power rangers!! He loved all action figures and super heroes, I just remember him looking up at me and not focusing properly and his right eye was going to the side. I was a bit concerned but not worried as his school friend had a lazy eye and his was being treated with glasses. I phoned the doctors and they got me in the next day, he said there was nothing to worry about and he would refer me to the hospital for an eye test. I was so relieved and Joe seemed fine and happy so we carried on with everyday life as normal.

In a Daze

It didn’t seem long after that I noticed Joe would sit in a daze and not hear me shout him, but then would snap out of it and be ok again, so I put it down to just being tired. Things got worse and school would phone me saying he didn’t feel well and I once again took him to the doctors!! After him looking at me as if I was a overbearing mum and a hypochondriac, he just said Joe had glue ear and he was just being naughty, which I new was wrong and I wasn’t happy at all but went away with some ear drops! He gradually became a different child, he didn’t understand simple instructions like go and get your drink, and he would look at me gone out and just stare. Again I put it down to him not hearing me properly and it making him confused. I went back to the doctors a couple of weeks later and he made me feel so uncomfortable and just said to wait for the referral from the hospital and to stop worrying!

Next Couple of Months

Over the next couple of months Joe became very obsessed with routine, I would have to put on his clothes in a certain order and have his food so it wasn’t touching on his plate, or he would have a tantrum (which was not like him) and I couldn’t get him to go out or eat. Then he became very clumsy falling over everything but again I put it down to his eye. I didn’t want to go to the doctors again and his appointment had come through for January so we were just looking forward to Christmas

School was concered

School became very concerned and asked me to go and see them as his reading and writing were going well below average and up until then he had been doing so well with everything and always got 10/10 in spelling. When I got there they said Joe had been found wondering around the playground and didn’t know where he was and was frightened, my stomach just churned and I gave him a big cuddle and told him mummy would make him better and not to worry, by then I was getting worried myself and just wanted some answers.

Xmas 2002

Wonderful Christmas

We had a wonderful Christmas probably the best one we have had. Lots of presents and my mum and dad stayed at our house, we went to my sisters house for Christmas dinner and Joe played all day! we videoed everything from me getting up to put all his presents under the tree, to him going to bed, his little face on Christmas morning was magical and for that day we forgot all the worries.

Grimsby Hospital

At last his appointment at the hospital arrived, I was so relieved hoping we would get to the bottom of it all and make Joe better at last. We sat down to see the doctor and instantly she looked worried, she excused herself out of the room and I just sat there trying to put a smile on my face for Joes sake but feeling scared. She came back in the room and sat down with a sympathetic look on her face and told me Joe was being rushed down to have an MRI scan as she was so worried about him. I just sat there numb just wanting to cry but couldn’t as Joe was watching me and he was scared to, so I just gave him a cuddle and waited. He was so brave, the hour he was having his scan I just sat in the café and drank coffee and everything went through my mind, should I have done something sooner, is it my fault ? I just wanted to see Joe and find out the results but I was so frightened, all I kept thinking was brain tumour or cancer!!! The Consultant finally came to see us and showed me the scan, all I could see was two white masses on his brain and I felt sick. I said it’s a tumour isn’t it? He said no so for a second I had relief, very short lived though that’s when I heard the word for the first time ADRENOLEUKODYSTROPHY , I just sat there thinking I had never heard of it but as long as it wasn’t cancer we would have a chance. We came home the next day and everything felt like a dream, like the whole world was carrying on as normal but my life was being torn apart!

Awful Disease

I was the one that had passed this awful disease on to my son! I was devastated and felt so guilty! I just kept thinking I wish it was me that had it and not Joe. I remember them saying that my beautiful son would die without a bone marrow transplant and even with that, because he was already showing signs of brain damage, he might not make it through anyway. The kind nurse could see I was ready to break down so she made me a coffee and left me in a room on my own, I felt sick and petrified but I knew we didn’t have a choice so they started looking for a donor and all the tests were done. Through it all Joe stayed so happy and never moaned he inspired me to stay strong because he needed his mummy and I wasn’t going to let him down, we always stayed so close through everything.

2003

Consultants

We went to sheffield children’s hospital a couple of days later and that’s when we were told everything about ALD. The consultants told me Joe would need to go on Lorenzo’s oil which would lower his very long chain fatty acids and go on a very low fat diet ready for his Bone Marrow transplant. That’s when I met Linda his nurse in Grimsby she came to take bloods every week, she became a very treasured friend, Carol a play specialist would take his mind off the needles and make him smile. Joe had so many tests and bloods taken we felt like we spent more time going to and from Sheffield Hospital than at home, but I new they were taking good care of my Joe. Eventually a tube had to be put in his chest ready for his chemo and drugs, Joe picked all different coloured wiggly bags (as they called them ) he thought it was great and he got used it very quickly. At home things were getting really difficult I had to put stair gates back up and make sure I was watching him all the time as he was falling over everything and he would get so frustrated he just couldn’t understand what was happening. A few weeks later we was sat watching television together and he started to shout me and got up to look for me, he had know idea I was sat with him and he panicked ! That really shocked me and I realised then that he was losing his sight, I told Sheffield and they did a thorough eye test, the news wasn’t good ( as usual ) they said even with the transplant Joe would be blind within a year. They fitted him with hearing aids but it just magnified his confusion and he hated them in, I could always understand Joe as his speech was very slurred now and he could understand me which was lovely.

My Story - Part Two

My Story continued

A Few Weeks

After a few weeks just before Joe lost most of his sight, I was having a tearful day and went to sit on the stairs so he wouldn’t see me cry when he came through and saw me, I just said mummy was being silly and that I loved him very much. He went in the toilet and got me a tissue and wiped my eyes and sat down with me, it was as if I had got Joe back for a few minutes and he knew exactly what he was doing and saying I will never forget what he said, he held my hand and told me that he would always be with me and that he loved me "more than the moon and stars in the sky and the planets in space “. We said that to each other everyday, it was as if he knew after that day he might not be able to say it. Days went by and more hospital visits and tests but Joe was getting rapidly worse. He loved putting his James Bond DVDs in order and he would spend ages taking them out the box and putting them back in again, one day I was in the kitchen and he screamed out that he could hardly see anything, I just held him and told him everything would be ok (knowing it wouldn’t be) I was devastated I just felt so hopeless for him.

Do Normal Things

We would try and do normal things like go around to my sisters house and take him to play with my nieces and nephew but he would get very scared and want to go home. But when my niece Gemma would play with him it calmed him down and he would smile at her and touch her face, that was lovely to see. We were due to go for his transplant in May 2003 but when we got there the Donor had anaemia and we had to go home for another 5 weeks!!! So disappointed!! Over the next 5 weeks Joes condition worsened so much, he couldn’t walk properly, couldn’t see hardly and was completely reliant on me for everything now, his tantrums got worse and he would cry so much, all I could do was cuddle him and make him feel safe. He would touch my face and smell me and he knew it was his mummy and would calm down. We would snuggle up in bed I would still read to him, just to give him and me some normality. I found it so hard doing everything on my own, people would help occasionally but Joe wouldn’t go with anyone else so it was hard to do a lot of things but we managed. We went out for a walk in his pushchair with my sister and nieces and nephew just to the train station around the corner from us and we had this picture taken together and he smiled for the first time in ages and it will always mean a lot to me, our special time together before all the tests started again.

School was concered

School became very concerned and asked me to go and see them as his reading and writing were going well below average and up until then he had been doing so well with everything and always got 10/10 in spelling. When I got there they said Joe had been found wondering around the playground and didn’t know where he was and was frightened, my stomach just churned and I gave him a big cuddle and told him mummy would make him better and not to worry, by then I was getting worried myself and just wanted some answers.

Sheffield Childrens Hospital

It was time to go back into Sheffield hospital for his Bone Marrow Transplant it was June now, 6 months since he was diagnosed, he had lost so much in that time but we still had to give him a chance!! June 10th 2003, Joe started his chemotherapy he was hooked up for 6 hours. The nurses said he would need a nose tube so he could take all his medicines as there were so many, he screamed when they were doing it I couldn’t watch, he was so upset and didn’t understand what was happening. We eventually calmed him down and he slept all night. June 15th, started cyclosporine (anti rejection drug) still on Chemo but oral now. Joe was very upset today gave him something to calm him down. This went on for the next 3 days. He was really upset and all he could say to me was were is my mummy she’s left me, then he told me his address and told me to take him home to his mummy, he had know idea who I was, it totally devastated me and I realised he had dementia , the doctors told me that was one of the symptoms of ALD, I just hugged and hugged him to see if he could touch my face and smell my hair like he did before but he just looked confused an scared . That was the last time he spoke I just felt so desperate and frightened. But when he was ever upset after that I was the only one who could calm him down, the nurses said he could sense me which gave me some comfort. In between we had visitors, people would bring him teddies and toys and lots of get well cards, our room was covered in posters and get well wishes. It touched me so much knowing people loved him and were thinking about us.

Birthday

June 19th TRANSPLANT DAY: 1.5 litres of Bone Marrow, Started at 4.30 pm and finished 10.30pm everything had gone well today. What an amazing lady for giving my son a chance. June 20th: Joe had to be fed by tube now as he couldn’t keep anything down it was called TPN and about twenty drugs a day! He was in isolation now nobody could come inside the room except us and the nurses. June 21st: Joes 6th Birthday: People came to see us today but they couldn’t come in the room they had to sing Happy Birthday through the intercom, Very sleepy today. The nurses painted there faces and made a cake for him they were brilliant!!! June 23rd: Poorly day , sore throat , mouth and tummy ache all day started on 90 ml of morphine given to settle him. Slept until 3am up for 30 mins and settled him until 7 am.

Very poorly

June 24th: Very poorly today, puffy eyes, rash and nose bleeds, given 110ml of Morphine and his cocktail of 20 drugs . Hair falling out today so bought little silver box to put a bit of it in. His breathing has changed, very heavy June 25th: Very Poorly today swollen and puffy eyes, breathing really difficult, really feel helpless at the moment! Joe is given a nebulizer and calms down June 26th: Dr Vora & Dr Sharrad are happy with the Bone Marrow transplant but they feels it hasn’t helped Joe and maybe made him worse with the ALD I was so frightened now we might have cured Joe like this, I felt so guilty for having these feelings! But he hasn’t spoken or made signs of improvement since we came here he is just getting worse everyday. The doctors stopped his Lorenzo’s oil as they didn’t think it was helping and there was a chance he could breath it in to his lungs. Over the next few days and weeks joe’s platelets were back to normal and he was out of isolation, still taking more than 30 drugs a day but at least people could visit now. Joe either slept or would be in pain or would just lay there in a world of his own, apart from two or three days when he would laugh and giggle uncontrollably.

A Little Comfort

It was so wonderful to see and gave me a little comfort but the doctors just said it was the changes in his brain and things shutting down that made this happen. This was the last time I heard him laugh and I will remember it always. We would read to him and have lights and sounds around him but he didn’t really have any response, I missed the sound of his voice so much and just wanted him to hug me back, it was breaking my heart. I used to go for a shower every morning and cry and pray that Joe wouldn’t live like this forever; I just couldn’t bear to watch my beautiful boy suffer anymore. Everybody would tell me he would make a recovery but I just knew that he wasn’t going to, then one day a doctor came to examine Joe’s chest because he was struggling to breath and very chesty and he told me Joe was not swallowing properly and it was due to his ALD and he wasn’t going to survive, his condition had become progressive very quickly and it was only a matter of weeks. I was so shocked and numb but at the same time relieved for my little boy that he wouldn’t have to go through life in this much pain anymore and he would soon be at peace..

Waiting Game

Over the next few weeks it just became a waiting game we kept him as comfortable as possible, people came to visit still insisting the doctors were wrong and he was going to be fine! I felt like screaming!!!!! But most of them would be very supportive and I couldn’t have got through the last weeks without all my family and friends. All the nurses were brilliant and one partcular nurse called Julie was like my second mum in there she kept me sane and was always there for a chat or a hug whenever I needed her. I also made a good friend with Jude, who was Joe's social worker. She was fantastic and sat and listened to what I ever I had to say. Without these two and all the other nurses and doctors, I don’t think I would have got through it, they were all amazing. They will always have a special place in my heart.

My Story - Part Three

My Story continued

Pain Relief

After a few weeks just before Joe lost most of his sight, I was having a tearful day and went to sit on the stairs so he wouldn’t see me cry when he came through and saw me, I just said mummy was being silly and that I loved him very much. He went in the toilet and got me a tissue and wiped my eyes and sat down with me, it was as if I had got Joe back for a few minutes and he knew exactly what he was doing and saying I will never forget what he said, he held my hand and told me that he would always be with me and that he loved me "more than the moon and stars in the sky and the planets in space “. We said that to each other everyday, it was as if he knew after that day he might not be able to say it. Days went by and more hospital visits and tests but Joe was getting rapidly worse. He loved putting his James Bond DVDs in order and he would spend ages taking them out the box and putting them back in again, one day I was in the kitchen and he screamed out that he could hardly see anything, I just held him and told him everything would be ok (knowing it wouldn’t be) I was devastated I just felt so hopeless for him.

Sweet Dreams

Sunday 17th August 2003 at 8.25pm my wonderful son passed away in his sleep, and in my arms, he fought so hard and he was the bravest person I know, he has inspired me to live life to the full and to never take a day for granted. I will always miss him more than anything but I know he is ok now and one day we will meet again and I will see him smile and hear his voice and give him the cuddle I so long to give him, but until then he knows that I love him more than the moon and the stars in the sky and the planets in space


Sweet Dreams My Angel

Love you millions

Mummy xxx

WHAT IS ALD?

Please find some Information and videos bekow that explain about Adrenoleukodystrophy



Information about ALD

Adrenoleukodystrophy (ALD) is a degenerative disorder of myelin, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without myelin, nerves are unable to conduct an impulse, leading to increasing disability as myelin destruction increases and intensifies. The victims of ALD are always male, and the disease begins its expression around the ages 5 to 10. The disease is due to an X-linked inheritance of peroxisomes that cannot properly process long chain fatty acids in the brain.ALD is a type of leukodystrophy, disorders affecting the growth and/or development of myelin. Leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but is lost by immunologic dysfunction or for other reasons.

Symptoms

The clinical presentation is largely dependent on the age of onset of the disease. The most severe type is the childhood cerebral form, which normally occurs in males between the ages of 5 and 10 and is characterized by failure to develop, seizures, ataxia, adrenal insufficiency, as well as degeneration of visual and auditory function. This form can also occur in adolescents and very rarely in adults. In another form of ALD, which primarily strikes young men, the spinal cord dysfunction is more prominent and therefore is called adrenomyeloneuropathy, or "AMN." The patients usually present with weakness and numbness of the limbs and urination or defecation problems. Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN. Adult and neonatal (which tend to affect both males and females and be inherited in an autosomal recessive manner) forms of the disease also exist but they are extremely rare. Some patients may present with sole findings of adrenal insufficiency (Addison's disease). ALD also causes uncontrollable rage in some cases..

Diagnosis

The diagnosis is established by clinical findings and the detection of serum long chain fatty acid levels. MRI examination reveals white matter abnormalities, and neuroimaging findings of this disease are quite reminiscent of the findings of multiple sclerosis. Genetic testing for the analysis of the defective gene is available in some centers..

Pathophysiology

The most common form of ALD is X-linked (the defective gene is on the X chromosome, location Xq28), and is characterized by excessive accumulation of very long chain fatty acids (VLCFA) — fatty acids chains with 24–30 carbon atoms (particularly hexacosanoate, C26) in length. This was originally described by Moser et al in 1981. So, when the ALD gene was discovered in 1993, it was a surprise that the corresponding protein was in fact a member of a family of transporter proteins, not an enzyme. It is still a mystery as to how the transporter affects the function of the fatty acid enzyme and, for that matter, how high levels of very long chain fatty acids cause the loss of myelin on nerve fibers. The gene (ABCD1 or "ATP-binding cassette, subfamily D, member 1") codes for a protein that transfers fatty acids into peroxisomes, the cellular organelles where the fatty acids undergo β-oxidation. A dysfunctional gene leads to the accumulation of very long chain fatty acids (VLCFA). The precise mechanisms through which high VLCFA concentrations cause the disease are still unknown as of 2005, but accumulation is severe in the organs affected. The prevalence of X-linked adrenoleukodystrophy is approximately 1 in 20,000 individuals. This condition occurs with a similar frequency in all populations..

Treatment

While there is currently no cure for the disease, some dietary treatments, for example, Lorenzo's oil in combination with a diet low in VLCFA, have been used with limited success, especially before disease symptoms appear. A recent study by Moser et al (2005) shows positive long-term results with this approach; see also the Myelin Project. Bone marrow transplantation has been proven to help ALD who are either presymptomatic or exhibiting mild symptoms early in the course of the disease. Lovastatin is an anticholesterol drug that seems to help, but researchers aren't sure how or why. Treatment, however, is to AID the symptoms and is NOT a cure

Please find some youtube videos that explain about Adrenoleukodystrophy



WHAT IS ALD? Adrenoleukodystrophy explained





Histopathology Brain--Adrenoleukodystrophy





What is Adrenoleukodystrophy? (ALD)